Incidental Mutation 'R5980:Pom121l2'
| ID |
481397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pom121l2
|
| Ensembl Gene |
ENSMUSG00000016982 |
| Gene Name |
POM121 transmembrane nucleoporin like 2 |
| Synonyms |
LOC195236 |
| MMRRC Submission |
044162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22167546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 606
(S606P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
| AlphaFold |
Q5SW25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017126
AA Change: S606P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: S606P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:POM121
|
162 |
301 |
3.5e-24 |
PFAM |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117882
|
| SMART Domains |
Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
60 |
N/A |
INTRINSIC |
|
Pfam:POM121
|
162 |
301 |
2e-24 |
PFAM |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
433 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,544,018 (GRCm39) |
N508D |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,354,362 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
A |
T |
15: 76,935,219 (GRCm39) |
T163S |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,247,095 (GRCm39) |
T33A |
probably benign |
Het |
| Atg7 |
C |
A |
6: 114,657,197 (GRCm39) |
F132L |
possibly damaging |
Het |
| Cep104 |
C |
A |
4: 154,072,930 (GRCm39) |
A396E |
probably benign |
Het |
| Cers4 |
T |
A |
8: 4,568,269 (GRCm39) |
C107* |
probably null |
Het |
| Cntn6 |
T |
C |
6: 104,825,093 (GRCm39) |
S878P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,158,705 (GRCm39) |
K633E |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,972 (GRCm39) |
I2592K |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,881,595 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,157,324 (GRCm39) |
C2320R |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,928,351 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
G |
8: 120,956,376 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,295 (GRCm39) |
H708Q |
probably benign |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,573 (GRCm39) |
S10P |
probably damaging |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,009 (GRCm39) |
V5A |
probably benign |
Het |
| Irgq |
G |
A |
7: 24,232,770 (GRCm39) |
G204S |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,234,463 (GRCm39) |
K681R |
possibly damaging |
Het |
| Kcnv1 |
C |
A |
15: 44,972,810 (GRCm39) |
V358L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,349 (GRCm39) |
S275T |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,219 (GRCm39) |
D155V |
probably damaging |
Het |
| Magel2 |
A |
T |
7: 62,030,344 (GRCm39) |
I1083F |
unknown |
Het |
| Mta3 |
T |
A |
17: 84,015,834 (GRCm39) |
V12D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,494,977 (GRCm39) |
I423T |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,616,887 (GRCm39) |
Y16H |
possibly damaging |
Het |
| Mycbp |
G |
A |
4: 123,804,889 (GRCm39) |
V91I |
probably benign |
Het |
| Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
| Nol4 |
T |
A |
18: 23,085,258 (GRCm39) |
Q52L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,416 (GRCm39) |
V808A |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,309 (GRCm39) |
H176R |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,509 (GRCm39) |
F238Y |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,141 (GRCm39) |
L207* |
probably null |
Het |
| Pate10 |
A |
C |
9: 35,652,911 (GRCm39) |
D51A |
probably damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,016,046 (GRCm39) |
D869E |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,613,770 (GRCm39) |
R517* |
probably null |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,401 (GRCm39) |
|
probably null |
Het |
| Saraf |
T |
A |
8: 34,632,541 (GRCm39) |
F207I |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,628 (GRCm39) |
D874G |
probably damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,190,411 (GRCm39) |
L14M |
unknown |
Het |
| Sidt1 |
A |
T |
16: 44,083,675 (GRCm39) |
C485* |
probably null |
Het |
| Sptbn4 |
A |
G |
7: 27,071,596 (GRCm39) |
Y1618H |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,662,716 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,310,703 (GRCm39) |
A206T |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,662 (GRCm39) |
I820F |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,520 (GRCm39) |
Y433H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,328,038 (GRCm39) |
V305A |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,480 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,626 (GRCm39) |
H291Q |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,624 (GRCm39) |
I457V |
probably benign |
Het |
|
| Other mutations in Pom121l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Pom121l2
|
APN |
13 |
22,166,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02223:Pom121l2
|
APN |
13 |
22,166,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0401:Pom121l2
|
UTSW |
13 |
22,166,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0402:Pom121l2
|
UTSW |
13 |
22,172,649 (GRCm39) |
splice site |
probably benign |
|
|
R0437:Pom121l2
|
UTSW |
13 |
22,167,375 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0575:Pom121l2
|
UTSW |
13 |
22,168,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0605:Pom121l2
|
UTSW |
13 |
22,166,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0892:Pom121l2
|
UTSW |
13 |
22,166,644 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0992:Pom121l2
|
UTSW |
13 |
22,166,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1259:Pom121l2
|
UTSW |
13 |
22,166,297 (GRCm39) |
nonsense |
probably null |
|
|
R1564:Pom121l2
|
UTSW |
13 |
22,167,523 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1603:Pom121l2
|
UTSW |
13 |
22,167,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Pom121l2
|
UTSW |
13 |
22,167,954 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1970:Pom121l2
|
UTSW |
13 |
22,167,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2018:Pom121l2
|
UTSW |
13 |
22,166,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2180:Pom121l2
|
UTSW |
13 |
22,166,145 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2277:Pom121l2
|
UTSW |
13 |
22,168,417 (GRCm39) |
missense |
probably benign |
|
|
R2365:Pom121l2
|
UTSW |
13 |
22,167,954 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3951:Pom121l2
|
UTSW |
13 |
22,166,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Pom121l2
|
UTSW |
13 |
22,166,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4574:Pom121l2
|
UTSW |
13 |
22,168,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4593:Pom121l2
|
UTSW |
13 |
22,168,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Pom121l2
|
UTSW |
13 |
22,167,984 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5320:Pom121l2
|
UTSW |
13 |
22,166,015 (GRCm39) |
nonsense |
probably null |
|
|
R5661:Pom121l2
|
UTSW |
13 |
22,168,425 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5662:Pom121l2
|
UTSW |
13 |
22,166,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5908:Pom121l2
|
UTSW |
13 |
22,165,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6145:Pom121l2
|
UTSW |
13 |
22,166,472 (GRCm39) |
nonsense |
probably null |
|
|
R6160:Pom121l2
|
UTSW |
13 |
22,167,838 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6327:Pom121l2
|
UTSW |
13 |
22,166,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Pom121l2
|
UTSW |
13 |
22,167,631 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6745:Pom121l2
|
UTSW |
13 |
22,167,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Pom121l2
|
UTSW |
13 |
22,166,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Pom121l2
|
UTSW |
13 |
22,165,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6796:Pom121l2
|
UTSW |
13 |
22,167,694 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6984:Pom121l2
|
UTSW |
13 |
22,166,191 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7284:Pom121l2
|
UTSW |
13 |
22,166,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Pom121l2
|
UTSW |
13 |
22,168,502 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7568:Pom121l2
|
UTSW |
13 |
22,166,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7624:Pom121l2
|
UTSW |
13 |
22,167,699 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7832:Pom121l2
|
UTSW |
13 |
22,168,048 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7956:Pom121l2
|
UTSW |
13 |
22,167,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Pom121l2
|
UTSW |
13 |
22,166,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8506:Pom121l2
|
UTSW |
13 |
22,167,789 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9167:Pom121l2
|
UTSW |
13 |
22,167,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9313:Pom121l2
|
UTSW |
13 |
22,168,506 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9332:Pom121l2
|
UTSW |
13 |
22,165,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Pom121l2
|
UTSW |
13 |
22,168,402 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Pom121l2
|
UTSW |
13 |
22,172,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTGAGACAGCTCCTGTG -3'
(R):5'- ATAAGCCCAAAGTTGCCAGAGG -3'
Sequencing Primer
(F):5'- TGAGACAGCTCCTGTGCACAC -3'
(R):5'- CAAAGTTGCCAGAGGGTTGCTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation